We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vo...

The goal of the Globe project is to design and build a middleware platform that facilitates the development of large-scale distributed applications, such as those found on the Internet. To demonstrate the feasibility of our design and to test our ideas, we are currently building a new Internet application: The Globe Distribution Network. The Globe Distribution Network, or GDN, is an application...

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea d...

A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or m...

Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorc...

Canadian Family Physician focuses on a special theme in this issue: poverty and human development. This month, we share this theme with more than 200 journals around the world. Two College members have seen our world as a spinning blue, green, and white orb. As astronauts, Dr Robert Thirsk and Dr Dave Williams have experienced this particular view of our home planet. Although that type of world...

Introduction: Pharmacovigilance (PV) plays a consequential role in the drug regulatory system and is constantly evolving multifaceted field. In process of carrying out its effective management, PV does undergo lot challenges on global pitch. well developed western globe (United States, United Kingdom, Germany) while east (e.g.: India) still stage.
 Methods: Major discrepancies include diff...

Using reverse genetics, a candidate for the sex determining gene from the Y chromosome has recently been cloned. We have used a DNA probe from this gene to assess the presence of this crucial region of the Y chromosome in patients with sexual ambiguity or gonadal dysgenesis. The DNA from 3 cases of gonadal dysgenesis, one complicated by somatic anomalies and mental retardation, reacted normally...